Varaico: Literature-Extracted Genetic Variants

Gene:GORAB
Variant:p.E46*
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GORAB

NM_152281.3:p.E46*

Associated Papers

Geroderma Osteodysplastica: A Narrative Review of Its Genetic Basis, Clinical Features, and Management.

Slaiby N et al.

Clinical Genetics, 2025

A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings.

Alotaibi M et al.

Global Medical Genetics, 2022

Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.

Linders PTA et al.

International Journal of Molecular Sciences, 2020

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

Hennies HC et al.

Nature Genetics, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."